Full data view for gene CENPP

Information The variants shown are described using the NM_001012267.1 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-11112A>G r.(?) p.(=) Unknown - likely benign g.95077169A>G - NOL8(NM_001256394.1):c.1534T>C (p.Y512H) - CENPP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7346G>C r.(?) p.(=) Unknown - VUS g.95080935G>C g.92318653G>C NOL8(NM_001256394.1):c.247C>G (p.P83A) - NOL8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.503G>A r.(?) p.(Arg168Gln) Unknown - likely benign g.95142080G>A g.92379798G>A CENPP(NM_001012267.1):c.503G>A (p.(Arg168Gln)) - ASPN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564+86649T>C r.(=) p.(=) Unknown - VUS g.95228790T>C g.92466508T>C ASPN(NM_017680.5):c.448A>G (p.K150E) - ASPN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564+94885_564+94886insCTCATCATCATC r.(=) p.(=) Unknown - VUS g.95237026_95237027insCTCATCATCATC g.92474744_92474745insCTCATCATCATC ASPN(NM_001193335.1):c.153_154insGATGATGATGAG (p.(Asp51_Glu52insAspAspAspGlu)) - ASPN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.564+94916_564+94927del r.(=) p.(=) Unknown - likely benign g.95237057_95237068del - ASPN(NM_017680.5):c.144_155delTGATGATGATGA (p.D49_D52del) - ASPN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564+94919_564+94927dup r.(=) p.(=) Unknown - VUS g.95237060_95237068dup g.92474778_92474786dup ASPN(NM_001193335.1):c.149_150insTGATGATGA (p.(Asp49_Asp51dup)) - ASPN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.564+94922_564+94927dup r.(=) p.(=) Unknown - benign g.95237063_95237068dup g.92474781_92474786dup ASPN(NM_017680.5):c.147_152dupTGATGA (p.D49_D50dup) - ASPN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564+94925_564+94927del r.(=) p.(=) Unknown - benign g.95237066_95237068del g.92474784_92474786del ASPN(NM_001193335.1):c.150_152del (p.?), ASPN(NM_017680.5):c.153_155delTGA (p.E51del) - ASPN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.564+94925_564+94927del r.(=) p.(=) Unknown - VUS g.95237066_95237068del g.92474784_92474786del ASPN(NM_001193335.1):c.150_152del (p.?), ASPN(NM_017680.5):c.153_155delTGA (p.E51del) - ASPN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.564+94925_564+94927dup r.(=) p.(=) Unknown - VUS g.95237066_95237068dup g.92474784_92474786dup ASPN(NM_001193335.1):c.153_155dup (p.(Asp51dup)) - ASPN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.565-93626A>G r.(=) p.(=) Unknown - VUS g.95279970A>G g.92517688A>G ECM2(NM_001197295.1):c.480T>C (p.(=)) - CENPP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.565-88479A>G r.(=) p.(=) Unknown - VUS g.95285117A>G g.92522835A>G ECM2(NM_001197295.1):c.32T>C (p.(Leu11Pro)) - CENPP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.677T>C r.(?) p.(Ile226Thr) Unknown - VUS g.95374837T>C g.92612555T>C CENPP(NM_001012267.1):c.677T>C (p.(Ile226Thr)) - ASPN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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